PEOB3
MCID: PRG129
MIFTS: 22

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 (PEOB3)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Progressive External Ophthalmoplegia with Mitochondrial Dna...

MalaCards integrated aliases for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3:

Name: Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 57 72 29 6
Peob3 57 12 72
Progressive External Ophthalmoplegia, Autosomal Recessive 3 57 72
Autosomal Recessive Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 3 12
Autosomal Recessive Progressive External Ophthalmoplegia 3 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in mid-forties
two finnish sisters have been reported (last curated august 2016)


HPO:

31
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111523
OMIM® 57 617069
OMIM Phenotypic Series 57 PS157640
MeSH 44 D017246

Summaries for Progressive External Ophthalmoplegia with Mitochondrial Dna...

UniProtKB/Swiss-Prot : 72 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3: A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB3 patients manifest adult-onset progressive external ophthalmoplegia and progressive proximal muscle weakness associated with muscle atrophy.

MalaCards based summary : Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3, is also known as peob3. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 is TK2 (Thymidine Kinase 2). Affiliated tissues include eye and skeletal muscle, and related phenotypes are ptosis and dysarthria

Disease Ontology : 12 A chronic progressive external ophthalmoplegia that has material basis in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21.

More information from OMIM: 617069 PS157640

Symptoms & Phenotypes for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Human phenotypes related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 HP:0000508
2 dysarthria 31 HP:0001260
3 dysphagia 31 HP:0002015
4 facial palsy 31 HP:0010628
5 skeletal muscle atrophy 31 HP:0003202
6 elevated serum creatine kinase 31 HP:0003236
7 scapular winging 31 HP:0003691
8 progressive external ophthalmoplegia 31 HP:0000590
9 increased serum lactate 31 HP:0002151
10 mitochondrial myopathy 31 HP:0003737
11 proximal muscle weakness 31 HP:0003701
12 decreased activity of mitochondrial respiratory chain 31 HP:0008972

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
ptosis
external ophthalmoplegia, progressive

Abdomen Gastrointestinal:
dysphagia

Muscle Soft Tissue:
mitochondrial myopathy
ragged red fibers seen on muscle biopsy
muscle weakness, proximal
myopathic features seen on emg
cox-negative fibers
more
Laboratory Abnormalities:
increased serum lactate, mild
increased serum creatine kinase, mild

Voice:
dysarthria

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Head And Neck Face:
facial muscle weakness

Clinical features from OMIM®:

617069 (Updated 20-May-2021)

Drugs & Therapeutics for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Search Clinical Trials , NIH Clinical Center for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3

Genetic Tests for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Genetic tests related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3:

# Genetic test Affiliating Genes
1 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 29 TK2

Anatomical Context for Progressive External Ophthalmoplegia with Mitochondrial Dna...

MalaCards organs/tissues related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3:

40
Eye, Skeletal Muscle

Publications for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Articles related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3:

# Title Authors PMID Year
1
Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. 57 6
21937588 2012

Variations for Progressive External Ophthalmoplegia with Mitochondrial Dna...

ClinVar genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TK2 NM_004614.5(TK2):c.547C>T (p.Arg183Trp) SNV Pathogenic 38992 rs137886900 GRCh37: 16:66551110-66551110
GRCh38: 16:66517207-66517207
2 TK2 NM_004614.5(TK2):c.562A>G (p.Thr188Ala) SNV Pathogenic 38993 rs281865495 GRCh37: 16:66551095-66551095
GRCh38: 16:66517192-66517192
3 TK2 NM_004614.5(TK2):c.416C>T (p.Ala139Val) SNV Pathogenic 38990 rs281865494 GRCh37: 16:66562930-66562930
GRCh38: 16:66529027-66529027
4 TK2 NM_004614.5(TK2):c.173A>G (p.Asn58Ser) SNV Pathogenic 38978 rs138439950 GRCh37: 16:66575840-66575840
GRCh38: 16:66541937-66541937

UniProtKB/Swiss-Prot genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3:

72
# Symbol AA change Variation ID SNP ID
1 TK2 p.Arg183Trp VAR_023791 rs137886900
2 TK2 p.Thr188Ala VAR_076984 rs281865495

Expression for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Search GEO for disease gene expression data for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3.

Pathways for Progressive External Ophthalmoplegia with Mitochondrial Dna...

GO Terms for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Sources for Progressive External Ophthalmoplegia with Mitochondrial Dna...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....